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Oculocerebral dysplasia

Disease definition

Oculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive.


  • Synonym(s):
    • Behrens-Baumann-Vogel syndrome
    • Microphthalmia-optic nerve aplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q11.2
  • OMIM: -
  • UMLS: C2931582
  • MeSH: -
  • GARD: 4021
  • MedDRA: -
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